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  1. ...region indicated with dashed rectangles in the upper plot. MHC-I, MHC-II and APG are marked and labeled individually, with the width of rectangles corresponding to gene lengths. Maximum relative expression: the maximum fraction of total MHC-I expression (FPKM) attributable to a sequence across all RNA...
  2. ...et al. 2006). Extensive sequencing of MHC-I transcript and genomic DNA PCR amplicons suggests that this expansion of MHC-B genes is common in both rhesus and cynomolgus macaques (Otting et al. 2005; Doxiadis et al. 2013; Wiseman et al. 2013; Karl et al. 2017; Shortreed et al. 2020). These MHC...
  3. ...Fi assemblies to compare with our work. Forty-five out of 70 haplotypes were complete across the MHC, the remaining 25 had one or more breaks in the MHC. The most common breaks in the 1KGP samples were across the HLA-DR region (14/70) and the RCCX region (10/70). There were seven breaks outside of the two...
  4. ...to address tagged sequences of the medically relevant and complete autosomal genes. The 389 gene panel was extensively compared to whole- sequencing using 11 control samples. While the technical performance of the panel using PacBio yielded good results, the authors noted that 75% of the genes lacked Clin...
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  5. ...determine the sequence and identity of alleles of HLA genes. HLA genes encode for the major histocompatibility complex (MHC) group of immune receptors which are instrumental in the presentation of antigens on the cell surface (Shiina et al. 2009). Determining the identities of HLA alleles that are present...
  6. ...on a permutation test (Methods). This observation is probably caused by balancing selection that tends to maintain the high diversity in MHC.HLA gene deletionsDeletion of HLA-Y (Y-del) is the most common gene deletion among HLA genes (71.3% in HPRC and 87.3% in CPC). It is rarely studied in large cohorts because...
  7. ...are then called using DeepTrio (Fig. 1B; The 1000 Genomes Project Consortium 2015; Sirén et al. 2021). Next, variants in 1000 Genomes Project haplotypes that appear missing in the DeepTrio-called variants are imputed. The purpose of this is to fill in common variants that were possibly missed by the variant...
  8. ...may open the opportunity for HLA and KIR genotyping across various sequencing applications. Introduction Polymorphisms in immune receptor genes diversify the immune response, which strengthens the resilience of a population to diseases. In particular, major histocompatibility complex (MHC) encoded...
  9. ...occur in the 114 bp common to the two sequences (see the previous section for putative TFBS in this region).View larger version: In this window In a new window Figure 5. Mechanisms for how Alu insertion polymorphisms associated with breast cancer affect gene expression levels. For each of four loci (A...
  10. ...that alignment to the reference haplotype (pgf) near the C4A and C4B genes (Chr 6: 31982024–32002681, Chr 6: 32014762–32035418, blue gene markers in Fig. 2), known to harbor common structural variation and to be associated with several diseases, is poor for most haplotypes including the alternative reference...
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